ABCC7 p.Asn418Ser

ClinVar: c.1253A>G , p.Asn418Ser ? , not provided
c.1254T>C , p.Asn418= N , Benign
CF databases: c.1253A>G , p.Asn418Ser (CFTR1) ? , A novel mutation was identified by SSCP and direct sequencing. The nucleotide change A->G at position 1385 in exon 9 resulting in a replacement of a asparagine by a serine at position 418 (N418S). This mutation was found in two unrelated CF alleles. Both patients are compund heterozygous for [delta]F508.
Predicted by SNAP2: A: N (87%), C: N (66%), D: N (97%), E: N (93%), F: N (57%), G: N (93%), H: N (87%), I: N (78%), K: N (87%), L: N (78%), M: N (82%), P: N (82%), Q: N (93%), R: N (82%), S: N (97%), T: N (97%), V: N (82%), W: N (57%), Y: N (78%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Chen JM, Cutler C, Jacques C, Boeuf G, Denamur E, Lecointre G, Mercier B, Cramb G, Ferec C
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Mol Biol Evol. 2001 Sep;18(9):1771-88., [PMID:11504857]

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[hide] Pagani F, Buratti E, Stuani C, Baralle FE
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.
J Biol Chem. 2003 Jul 18;278(29):26580-8. Epub 2003 May 5., 2003-07-18 [PMID:12732620]

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